E2F1 G200S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

E2F1 G200S

(E2F1 Gly200Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr20:32266134: 1.9% (207/10756) in EVS
  • T @ chr20:31729794: 0.8% (1/126) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (207/10756)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr20:32266134

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:32266134

 

Other external references
 

    dbSNP
  • rs35385772
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (12 hits -- see all)
  • E2F1 Gene - GeneCards | E2F1 Protein | E2F1 Antibody
    EntrezGene summary for E2F1: The protein encoded by this gene is a member of the E2F ... E2F1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=E2F1
  • Transcription factor E2F1 - Homo sapiens (Human)
    "Structure and partial genomic sequence of the human E2F1 gene. ... "Autoregulatory control of E2F1 expression in response to positive and negative regulators ...
    www.uniprot.org/uniprot/Q01094
  • UniProt: E2F1_HUMAN
    ... R.; RT "Autoregulatory control of E2F1 expression in response to positive and RT ... the Rb C-terminal domain bound to E2F1-DP1: a mechanism RT for phosphorylation ...
    www.genome.jp/dbget-bin/www_bget?uniprot:E2F1_HUMAN
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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